Results 31 to 40 of about 2,529,505 (194)

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients [PDF]

, 2016
BACKGROUND\ud \ud Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults.
Robert A. Smith, Lyn R. Griffiths, Griffiths, Lyn R., Neven Maksemous, Maksemous, Neven, Larisa M. Haupt, Smith, Robert A., Haupt, Larisa M.   +7 more
core   +1 more source

Prevalence and Atypical Clinical Characteristics of NOTCH3 Mutations Among Patients Admitted for Acute Lacunar Infarctions

Frontiers in Aging Neuroscience, 2020
Objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary small vessel disease, with reported frequencies of 2-5/100,000 individuals. Recently, it has been reported that
Takashi Okada, Kazuo Washida, Kenichi Irie, Satoshi Saito, Satoshi Saito, Michio Noguchi, Tsutomu Tomita, Masatoshi Koga, Kazunori Toyoda, Shuhei Okazaki, Takashi Koizumi, Ikuko Mizuta, Toshiki Mizuno, Masafumi Ihara   +13 more
doaj   +1 more source

Regulation of Hepatocytes in G0 and G1 Phases by NOTCH3 mRNA, miR-369-3p, and rno-Rmdn2_0006 during the Initial Stage of Rat Liver Regeneration

Genetics Research, 2023
The key event of liver regeneration initiation (LRI) is the switch of hepatocytes from the G0 phase to the G1 phase. This study aimed to use the data from large-scale quantitatively detecting and analyzing (LQDA) to reveal the regulation of hepatocytes ...
Xiayan Zang, Zihui Wang, Yafei Li, Han Gao, Jianlin Guo, Wei Jin, Cuifang Chang, Juntang Lin, Kuicheng Zhu, Cunshuan Xu   +9 more
doaj   +1 more source

The epigenetic factor BORIS/CTCFL regulates the NOTCH3 gene expression in cancer cells. [PDF]

, 2014
Aberrant upregulation of NOTCH3 gene plays a critical role in cancer pathogenesis. However, the underlying mechanisms are still unknown. We tested here the hypothesis that aberrant epigenetic modifications in the NOTCH3 promoter region might account for ...
Passananti, Claudio, SCREPANTI, Isabella, ZAMPIERI, Michele, CICCARONE, FABIO, NOCCHIA, DANIELA, PALERMO, ROCCO, CAIAFA, Paola, Claudio Passananti, TALORA, Claudio, CIALFI, Samantha, CHIARETTI, sabina   +10 more
core   +1 more source

Considerations on a mutation in the notch3 gene sparing a cysteine residue: a rare polymorphism rather than a cadasil variant. [PDF]

, 2012
Some missense mutations and small deletions in the NOTCH3 gene, not involving cysteine residues, have been described in patients considered to be affected by paucisymptomatic CADASIL. However, the significance of such molecular variants is still unclear.
Ballabio E, Ranieri M, Cinnante C, Bersano A, Candelise L, Bresolin N, Ciammola A, Lanfranconi S, Baschirotto C, Bassi M., DOTTI, MARIA, Ghione I   +11 more
core   +7 more sources

Data_Sheet_1_Association between NOTCH3 gene and Parkinson’s disease based on whole-exome sequencing.docx

, 2022
ObjectiveCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene.
Qian Zeng (2866592), Jinchen Li (9466987), Qian Xu (119888), Beisha Tang (77106), Jifeng Guo (491535), Yige Wang (1476763), Jieqiong Tan (180436), Hongxu Pan (5767925), Yuwen Zhao (2715577), Xinxiang Yan (6039530)   +9 more
core   +1 more source

Expressions of EZH2 and NOTCH3 pathway in osteosarcoma and their roles in osteosarcoma stem cells

Polish Journal of Pathology, 2023
Osteosarcoma (OS) is the most common malignant bone tumour; however, the underlying mechanisms are mainly unknown. Enhancer of zeste homologue 2 (EZH2) and NOTCH pathway are important molecular signals related to carcinogenesis and tumour progression ...
Guangning Yan, Yangfan Lv, Xuwen Lai, Zhenlian Li, Danli Ye, Wei Wang, Yunfeng Qian, Haojie Yu, Zhuocai Wang   +8 more
doaj   +1 more source

Histone Modifications Drive Aberrant Notch3 Expression/Activity and Growth in T-ALL

Frontiers in Oncology, 2019
T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive blood cancer caused by the deregulation of key T-cell developmental pathways, including Notch signaling.
Luca Tottone, Nadezda Zhdanovskaya, Álvaro Carmona Pestaña, Michele Zampieri, Fabrizio Simeoni, Sara Lazzari, Valeria Ruocco, Maria Pelullo, Paola Caiafa, Maria Pia Felli, Saula Checquolo, Diana Bellavia, Claudio Talora, Isabella Screpanti, Rocco Palermo   +14 more
doaj   +1 more source

Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model

EMBO Molecular Medicine, 2022
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of familial small vessel disease; no preventive or curative therapy is available. CADASIL is caused by mutations in the
Daniel V Oliveira, Kirsten G Coupland, Wenchao Shao, Shaobo Jin, Francesca Del Gaudio, Sailan Wang, Rhys Fox, Julie W Rutten, Johan Sandin, Henrik Zetterberg, Johan Lundkvist, Saskia AJ Lesnik Oberstein, Urban Lendahl, Helena Karlström   +13 more
doaj   +1 more source

Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients. [PDF]

PLoS ONE, 2013
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by NOTCH3 gene mutations that result in vascular smooth muscle cell (VSMC) degeneration. Its distinctive feature by electron microscopy (EM) is
Manrico Morroni, Daniela Marzioni, Michele Ragno, Paolo Di Bella, Elisabetta Cartechini, Luigi Pianese, Teresa Lorenzi, Mario Castellucci, Marina Scarpelli   +8 more
doaj   +1 more source